• Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=GM17051).
  

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Arita I., Tachibana A., Takebe H., Tatsumi K.
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Satoh M.S., Jones C.J., Wood R.D., Lindahl T.R.
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993)

PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0
Jones C.J., Lloyd R.S., Wood R.D.
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene.
Mutat. Res. 324:159-164(1994)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)